Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
Congenital Abnormality
|
1
|
17
|
0.750 |
strong |
0.889 |
9 |
17
|
2003 |
2019 |
Diencephalic Neoplasm
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
1
|
1
|
0.010 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Squamous cell (epidermoid) carcinoma
|
disease |
|
Neoplastic Process
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Lumbar hemivertebra
|
disease |
|
Congenital Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
|
disease |
|
Finding
|
1
|
11
|
0.100 |
None |
|
0 |
11
|
|
|
Non-Ossifying Fibroma
|
disease |
Neoplasms
|
Neoplastic Process
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Metastatic leiomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Thalamic Neoplasm
|
disease |
|
Neoplastic Process
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
16
|
0.300 |
strong |
1.000 |
1 |
|
2003 |
2003 |
Phosphaturic mesenchymal tumor, malignant
|
disease |
Neoplasms
|
Neoplastic Process
|
2
|
|
0.010 |
None |
< 0.001 |
1 |
|
2019 |
2019 |
Hypoplasia of the frontal bone
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Cartilaginous trachea
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Pfeiffer type acrocephalosyndactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
|
0 |
|
|
|
Calcaneonavicular fusion
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Multiple unerupted teeth
|
phenotype |
Stomatognathic Diseases
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal cartilage morphology
|
phenotype |
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
JACKSON-WEISS SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
20
|
0.710 |
strong |
1.000 |
4 |
3
|
2000 |
2017 |
Phosphaturic mesenchymal tumor, benign
|
disease |
|
Neoplastic Process
|
3
|
|
0.030 |
None |
1.000 |
3 |
|
2015 |
2016 |
reproductive system disorder
|
group |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Muenke Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
11
|
0.010 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Metastatic Lobular Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Extraventricular neurocytoma
|
disease |
|
Neoplastic Process
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Abnormal bone ossification
|
disease |
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Rosette-forming glioneuronal neoplasm
|
disease |
|
Neoplastic Process
|
3
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Tympanic Membrane Perforation
|
disease |
Otorhinolaryngologic Diseases; Wounds and Injuries
|
Injury or Poisoning
|
4
|
|
0.200 |
None |
1.000 |
1 |
|
2012 |
2012 |